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Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Isocitrate dehydrogenase (IDH) is an enzyme required for the production of α-ketoglutarate from isocitrate. IDH3 generates the NADH used in the mitochondria for ATP production, and is a tetramer made up of two α, one β and one γ subunit. Loss-of-function and missense mutations in both IDH3A and IDH3...
Autores principales: | Findlay, Amy S., Carter, Roderick N., Starbuck, Becky, McKie, Lisa, Nováková, Klára, Budd, Peter S., Keighren, Margaret A., Marsh, Joseph A., Cross, Sally H., Simon, Michelle M., Potter, Paul K., Morton, Nicholas M., Jackson, Ian J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307916/ https://www.ncbi.nlm.nih.gov/pubmed/30478029 http://dx.doi.org/10.1242/dmm.036426 |
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